X-Nico

Phytanic acid

Individuals with adult Refsum disease, an autosomal recessive neurological disorder caused by mutations in the PHYH gene, have impaired α-oxidation activity and accumulate large stores of phytanic acid in their blood and tissues.

Phytanoyl-CoA dioxygenase

PHYH deficiency results in the accumulation of large tissue stores of phytanic acid and is the major cause of Refsum disease.

see also

Phytol

Refsum disease, an autosomal recessive disorder that results from the accumulation of large stores of phytanic acid in tissues, frequently manifests peripheral polyneuropathy, cerebellar ataxia, retinitis pigmentosa, anosmia, and hearing loss.

Pristanic acid

Together with phytanic acid, pristanic acid accumulates in several inherited disorders such as Zellweger syndrome.